ClinVar Miner

List of variants in gene FERMT1 reported as benign for Kindler syndrome

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP
NM_017671.4(FERMT1):c.*1155T>C rs6139909
NM_017671.4(FERMT1):c.*1458C>T rs149665640
NM_017671.4(FERMT1):c.*1464C>T rs1059391
NM_017671.4(FERMT1):c.*1777dup rs397756084
NM_017671.4(FERMT1):c.*193C>T rs16991740
NM_017671.4(FERMT1):c.*194G>A rs114990723
NM_017671.4(FERMT1):c.*2016T>A rs6117066
NM_017671.4(FERMT1):c.*2058C>T rs12945
NM_017671.4(FERMT1):c.*2069T>C rs1059396
NM_017671.4(FERMT1):c.*72G>T rs2232084
NM_017671.4(FERMT1):c.*902A>G rs6053878
NM_017671.4(FERMT1):c.-105C>G rs6139922
NM_017671.4(FERMT1):c.-18-11T>G rs2273423
NM_017671.4(FERMT1):c.-185A>G rs2281532
NM_017671.4(FERMT1):c.-28T>C rs7273551
NM_017671.4(FERMT1):c.-301C>T rs116782539
NM_017671.4(FERMT1):c.-366C>G rs2281533
NM_017671.4(FERMT1):c.-456C>A rs80350329
NM_017671.4(FERMT1):c.-514T>C rs73604924
NM_017671.4(FERMT1):c.-646G>C rs2295432
NM_017671.4(FERMT1):c.-666G>A rs2295433
NM_017671.4(FERMT1):c.114T>C (p.His38=) rs10373
NM_017671.4(FERMT1):c.1153C>T (p.Leu385=) rs35413391
NM_017671.4(FERMT1):c.1264+14A>G rs111975159
NM_017671.4(FERMT1):c.1416G>A (p.Ser472=) rs148992845
NM_017671.4(FERMT1):c.152-4G>A rs2295435
NM_017671.4(FERMT1):c.1575A>G (p.Lys525=) rs2232073
NM_017671.4(FERMT1):c.1577G>A (p.Arg526Lys) rs2232074
NM_017671.4(FERMT1):c.1600G>A (p.Ala534Thr) rs2232078
NM_017671.4(FERMT1):c.1674G>A (p.Ala558=) rs2232079
NM_017671.4(FERMT1):c.1695T>C (p.Phe565=) rs753927
NM_017671.4(FERMT1):c.1861-8T>C rs2232082
NM_017671.4(FERMT1):c.1884C>T (p.Asn628=) rs2232083
NM_017671.4(FERMT1):c.211C>T (p.Leu71=) rs1056141
NM_017671.4(FERMT1):c.234C>T (p.Asp78=) rs57272794
NM_017671.4(FERMT1):c.467A>G (p.Asn156Ser) rs138019177
NM_017671.4(FERMT1):c.479T>C (p.Ile160Thr) rs16991866
NM_017671.4(FERMT1):c.51C>T (p.Arg17=)
NM_017671.4(FERMT1):c.532+8T>C rs41308641
NM_017671.4(FERMT1):c.722T>C (p.Val241Ala) rs55666319
NM_017671.4(FERMT1):c.763C>T (p.Arg255Cys) rs62200482
NM_017671.5(FERMT1):c.*1195A>G
NM_017671.5(FERMT1):c.*1358T>G
NM_017671.5(FERMT1):c.*1386A>T

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